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Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Synonyms
LIVER FAILURE, INFANTILE, TRANSIENT; Liver failure acute infantile
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: TRMU Deficiency
Infants with untreated TRMU deficiency, a mitochondrial disorder, typically become symptomatic between ages two and four months with transient acute liver dysfunction (including elevated transaminases, abnormal synthetic functions, and/or hepatomegaly), metabolic derangements (severe persistent lactic acidosis, hypoglycemia, hyperammonemia), and poor weight gain. With proper supportive treatment (but not disease-targeted therapy), abnormal liver findings (including coagulopathy) improve or normalize. Likewise, metabolic derangements improve. However, other manifestations typical of a mitochondrial disorder such as persistent lactic acidosis, neurologic dysfunction (including developmental delay / intellectual disability and seizures), cardiomyopathy, and respiratory failure may persist or develop or over time.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Michaela Reinhart
Colleen Muraresku
Rebecca Ganetzky
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Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LCAL3, MTO2, MTU1, TRMT, TRMT1, TRMU
    Summary: tRNA mitochondrial 2-thiouridylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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